Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs4728142
rs4728142
18 0.732 0.320 7 128933913 upstream gene variant G/A snv 0.38 0.710 1.000 2 2012 2015
dbSNP: rs559928
rs559928
6 0.827 0.120 11 64382898 intergenic variant T/C snv 0.77 0.800 1.000 2 2012 2015
dbSNP: rs56167332
rs56167332
7 0.807 0.160 5 159400761 intron variant C/A;T snv 0.700 1.000 2 2015 2017
dbSNP: rs6426833
rs6426833
6 0.827 0.120 1 19845367 TF binding site variant G/A snv 0.52 0.700 1.000 2 2015 2017
dbSNP: rs6887695
rs6887695
14 0.732 0.440 5 159395637 intron variant G/C snv 0.35 0.020 1.000 2 2008 2012
dbSNP: rs71559680
rs71559680
6 0.827 0.120 6 21430497 intergenic variant TAG/CAT mnv 0.700 1.000 2 2015 2017
dbSNP: rs7517810
rs7517810
2 1.000 0.040 1 172884320 intron variant C/T snv 0.29 0.700 1.000 2 2015 2017
dbSNP: rs75900472
rs75900472
3 0.925 0.040 9 4981601 upstream gene variant CC/A;C delins 4.6E-02 0.700 1.000 2 2015 2017
dbSNP: rs7911264
rs7911264
1 10 92677094 intergenic variant T/A;C;G snv 0.800 1.000 2 2012 2017
dbSNP: rs917997
rs917997
20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.810 1.000 2 2008 2012
dbSNP: rs9271366
rs9271366
9 0.807 0.240 6 32619077 intergenic variant G/A snv 0.86 0.710 1.000 2 2011 2015
dbSNP: rs10051722
rs10051722
2 1.000 0.040 5 130768383 intron variant A/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs10061469
rs10061469
1 5 73222321 intron variant T/C snv 0.37 0.700 1.000 1 2015 2015
dbSNP: rs10142466
rs10142466
1 14 68805067 intergenic variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs10521318
rs10521318
1 16 85977731 intron variant C/G;T snv 0.800 1.000 1 2012 2012
dbSNP: rs10748781
rs10748781
11 0.763 0.160 10 99523573 upstream gene variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs10800309
rs10800309
3 0.925 0.120 1 161502368 upstream gene variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs11187157
rs11187157
1 10 92742487 TF binding site variant T/C snv 0.40 0.700 1.000 1 2015 2015
dbSNP: rs113010081
rs113010081
3 0.925 0.160 3 46415921 downstream gene variant T/C snv 7.3E-02 0.700 1.000 1 2015 2015
dbSNP: rs11554257
rs11554257
2 1.000 0.040 9 114842790 upstream gene variant T/C snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs11641016
rs11641016
1 16 85981275 intron variant C/G snv 0.18 0.700 1.000 1 2015 2015
dbSNP: rs11672983
rs11672983
2 1.000 0.040 19 54871595 upstream gene variant G/A snv 0.35 0.800 1.000 1 2012 2012
dbSNP: rs11677953
rs11677953
1 2 218256940 non coding transcript exon variant G/A snv 0.36 0.700 1.000 1 2015 2015
dbSNP: rs11734570
rs11734570
2 1.000 0.040 4 38586832 intergenic variant G/A snv 0.39 0.700 1.000 1 2017 2017
dbSNP: rs11739135
rs11739135
2 1.000 0.040 5 132397705 downstream gene variant G/C snv 0.27 0.010 1.000 1 2012 2012